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- Zheng, Hou-Feng, et al.
(författare)
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Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 526:7571, s. 112-
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Tidskriftsartikel (refereegranskat)abstract
- The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF <= 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants(1-8), as well as rare, population specific, coding variants(9). Here we identify novel non-coding genetic variants with large effects on BMD (n(total) = 53,236) and fracture (n(total) = 508,253) in individuals of European ancestry from the general population. Associations for BMD were derived from whole-genome sequencing (n = 2,882 from UK10K (ref. 10); a population-based genome sequencing consortium), whole-exome sequencing (n = 3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n = 26,534), and de novo replication genotyping (n = 20,271). We identified a low-frequency non-coding variant near a novel locus, EN1, with an effect size fourfold larger than the mean of previously reported common variants for lumbar spine BMD8 (rs11692564(T), MAF51.6%, replication effect size510.20 s.d., P-meta = 2 x 10(-14)), which was also associated with a decreased risk of fracture (odds ratio = 0.85; P = 2 x 10(-11); ncases = 98,742 and ncontrols = 409,511). Using an En1cre/flox mouse model, we observed that conditional loss of En1 results in low bone mass, probably as a consequence of high bone turnover. We also identified a novel low frequency non-coding variant with large effects on BMD near WNT16 (rs148771817(T), MAF = 1.2%, replication effect size +10.41 s.d., P-meta = 1 x 10(-11)). In general, there was an excess of association signals arising from deleterious coding and conserved non-coding variants. These findings provide evidence that low-frequency non-coding variants have large effects on BMD and fracture, thereby providing rationale for whole-genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.
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| 3. |
- Uggla, L, et al.
(författare)
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An Explorative Study of Qualities in Interactive Processes with Children and Their Parents in Music Therapy during and after Pediatric Hematopoietic Stem Cell Transplantation
- 2019
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Ingår i: Medicines (Basel, Switzerland). - : MDPI AG. - 2305-6320. ; 6:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Hematopoietic stem cell transplantation (HSCT) is an established treatment for severe disorders of the pediatric hematopoietic system. However, there is a need for supportive interventions due to physiological and psychological strain. Music therapy is used in health care to help patients through difficult experiences and enable well-being. Our previous randomized studies showed significantly reduced heart rates four to eight hours after intervention as well as increased health-related quality of life. Methods: The aim of this qualitative study was to explore the participants’ and parents’ own experiences of the interactive processes during the music therapy intervention. Six families were included. The data collection used collaborative research interviews. An independent psychologist facilitated the interviews with the children, the parents, and the music therapist and also performed the analysis. Results: Three main themes emerged: experiences of competency and recognition of self, interactive affect regulation as change potential, and importance of the therapeutic relationship. Conclusions: For the participants, music therapy developed into a significant and helpful experience, an important ingredient in coping with and managing the treatment period at the hospital.
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| 4. |
- Uggla, L, et al.
(författare)
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Music therapy can lower the heart rates of severely sick children.
- 2016
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 105:10, s. 1225-30
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Tidskriftsartikel (refereegranskat)abstract
- AIM: Paediatric recipients of haematopoietic stem cell transplants (HSCT) are at increased risk of developing post-traumatic stress disorder (PTSD), and there is a need to identify interventions that can alleviate stress in this group. The aim of this study was to examine the previously unexplored effect of music therapy on children undergoing HSCT, by analysing physiological parameters and comparing them with a control group.METHODS: We performed a randomised clinical pilot study of 24 patients up to the age of 16 undergoing HSCT at Karolinska University Hospital, Huddinge, Sweden. Music therapy, including expressive and receptive elements, was performed twice a week in the treatment group and compared to standard care in the control group. Physiological parameters were evaluated according to the hospital's protocols.RESULTS: The music therapy group had significantly reduced evening heart rates compared to the control group (p < 0.001), and the effect was sustainable for four to eight hours after the intervention. There were no significant differences in saturation or blood pressure observed between the groups.CONCLUSION: Music therapy significantly lowered the heart rate of children undergoing HSCT for at least four to eight hours, indicating reduced stress levels and potentially lowering the risk of developing PTSD.
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| 9. |
- Carr,, B. J., et al.
(författare)
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The state space and physical interpretation of self-similar spherically symmetric perfect-fluid models
- 2001
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Ingår i: Class.Quant.Grav. 18 (2001) 303-324.
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this paper is to further investigate the solution space of self-similar spherically symmetric perfect-fluid models and gain deeper understanding of the physical aspects of these solutions. We achieve this by combining the state space description of the homothetic approach with the use of the physically interesting quantities arising in the comoving approach. We focus on three types of models. First, we consider models that are natural inhomogeneous generalizations of the Friedmann Universe; such models are asymptotically Friedmann in their past and evolve fluctuations in the energy density at later times. Second, we consider so-called quasi-static models. This class includes models that undergo self-similar gravitational collapse and is important for studying the formation of naked singularities. If naked singularities do form, they have profound implications for the predictability of general relativity as a theory. Third, we consider a new class of asymptotically Minkowski self-similar spacetimes, emphasizing that some of them are associated with the self-similar solutions associated with the critical behaviour observed in recent gravitational collapse calculations
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